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Biomedical subjects

R F Stratton

Publications and source records attributed to R F Stratton.

At least 19 recordsLinked to original sources
PubMed1998

Second 46,XX male with MLS syndrome.

We report on a second 46,XX male with microphthalmia with linear skin defects (MLS) syndrome. In addition to microphthalmia and linear skin streaks, he had a secundum ASD, hypospadias with chordee, anal fistula, and agenesis of corpus callosum with colpocephaly. Biopsy of a linear streak showed smooth muscle hamartomata rather than the presumed dermal aplasia. Detailed ophthalmologic examination did not show retinal lacunae typical of Aicardi syndrome. DNA studies with distal Xp specific probes indicated a deletion in one X chromosome and fluorescence in situ hybridization (FISH) studies with X- and Y-specific probes demonstrated the presence of a derivative X chromosome from an X;Y translocation.

Agenesis of Corpus Callosum↗
PubMed1997

Frontonasal malformation with tetralogy of Fallot associated with a submicroscopic deletion of 22q11.

We report on a 14-month-old girl with bifid nasal tip and tetralogy of Fallot. Several similar patients have been described with CNS or eye abnormalities. Chromosome analysis with FISH, using Oncor DiGeorge probes, confirmed a submicroscopic deletion of 22q11. Many patients with Shprintzen (velo-cardio-facial) syndrome have a similar deletion with conotruncal cardiac defects and an abnormal nasal shape, suggesting that a gene in this area, possibly affecting neural crest cells, influences facial and other midline development.

Chromosome Deletion↗
PubMed1996

Cobblestone lissencephaly with normal eyes and muscle.

Cobblestone lissencephaly is the characteristic brain malformation observed in Fukuyama congenital muscular dystrophy (FCMD), muscle-eye-brain disease (MEB), and Walker-Warburg syndrome (WWS). The diagnostic criteria for all three require the presence of congenital muscular dystrophy, and criteria for MEB and WWS require retinal abnormalities. We report three patients from two consanguineous families of Middle Eastern origin with cobblestone lissencephaly but no abnormalities of the eyes or muscle. Based on the current diagnostic criteria for the cobblestone lissencephaly syndromes, this disorder must be classified separately from the others, but it may well be allelic to MEB and WWS. Linkage studies have excluded the gene for this disorder from the region of the FCMD gene on chromosome 9q31-32.

Adolescent↗
PubMed1995

Interstitial duplication 19p.

We report on a 9-month-old girl with an interstitial duplication of 19p, developmental delay, and multiple anomalies including bifrontal prominence, obtuse frontonasal angle, short columella, additional midline philtral pillar, midline ridge on the tongue, vertical midline ridge at the mental symphysis, and a complex congenital heart defect including severe branch pulmonary artery stenosis, secundum atrial septal defect (ASD), and several ventricular septal defects (VSDs). Use of fluorescent in situ hybridization (FISH) with chromosome 19-specific probes showed a direct duplication of bands 19p13.13 and 19p13.2.

Abnormalities, Multiple↗
PubMed1994

Deletion 5q35.3.

We report on a 15-month-old boy with a de novo deletion of the terminal band of 5q, macrocephaly, mild retrognathia, anteverted nares with low flat nasal bridge, telecanthus, minor earlobe anomalies, bell-shaped chest, diastasis recti, short fingers, and mild developmental delay.

Abnormalities, Multiple↗
PubMed1994

Deletion (2)(q37).

We report on a 5-month-old girl with widely spaced nipples, redundant nuchal skin, coarctation of the aorta, anal atresia with distal fistula, postnatal growth retardation, hypotonia, and sparse scalp hair. Initial clinical assessment suggested the diagnosis of Ullrich-Turner syndrome. Chromosome analysis showed a 46,XX,del(2)(q37) karyotype in peripheral lymphocytes. We compare her findings to those of other reported patients with terminal deletions of 2q.

Chromosome Deletion↗
PubMed1994

Prenatal diagnosis of partial trisomy 1q using fluorescent in situ hybridization.

We report the use of fluorescent in situ hybridization (FISH) with a DNA library of chromosome 1-specific probes to confirm the karyotype, 46,XY,15+der15,t(1;15)(q32.1; q26.3), obtained by prenatal periumbilical blood sampling from a fetus who exhibited multiple abnormalities by ultrasound examination. GTG-banding of chromosomes obtained from the mother showed a normal karyotype, while the father was unavailable for study. The propositus was born at 37 weeks gestation and survived for several weeks. Cytogenetic analysis performed after the birth of the male infant with multiple anomalies verified partial trisomy 1q. This patient is compared with other partial trisomy 1q patients reported in the literature. The usefulness of FISH is demonstrated in situations where fetal abnormalities are present with de novo chromosomal rearrangements where paternal chromosomes are unavailable for study.

Abnormalities, Multiple↗
PubMed1994

Deletion (11)(q14.1q21).

We report on a 4-year-old girl with moderate developmental delay, horseshoe kidney, bilateral duplication of the ureters with right upper pole obstruction, hydronephrosis and nonfunction, and subsequent Wilms tumor of the right lower pole. She had an interstitial deletion of the long arm of chromosome 11 involving the region 11(q14.1q21).

Abnormalities, Multiple↗
PubMed1993

Interstitial duplication of 7(q22-->q34).

We report on a 3-year-old boy with an interstitial duplication of 7(q22-->q34), confirmed with fluorescent in-situ hybridization. He had post-natal growth retardation, developmental delay, frontal and parietal bossing, deep-set eyes, strabismus, bilateral optic nerve hypoplasia, and mild dilatation of the cerebral ventricles. His phenotype was not significantly different from that of the three previously reported patients with interstitial duplication of the smaller segment 7(q22-->q31).

Abnormalities, Multiple↗
PubMed1993

Trisomy 22 confirmed by fluorescent in situ hybridization.

We report on a newborn girl with multiple congenital anomalies, whose G-banded chromosome analysis showed complete trisomy 22. Chromosome painting using a whole-chromosome painting probe for chromosome 22 confirmed that neither chromosome 22 was involved in a cryptic translocation.

Abnormalities, Multiple↗
PubMed1993

Fryns syndrome.

We report on a premature female infant with Fryns syndrome who had several less commonly reported anomalies. She had bilateral posterior eventration of the hemidiaphragms instead of the usual diaphragmatic defects with visceral herniation into the chest cavity. She also had a unilateral cleft lip, camptodactyly, duodenal atresia, tracheomalacia, bronchomalacia, and Tetralogy of Fallot.

Abnormalities, Multiple↗
PubMed1993

DNA confirmation of congenital myotonic dystrophy in non-immune hydrops fetalis.

We report on the prenatal diagnosis of congenital myotonic dystrophy in a case of non-immune hydrops fetalis. DNA analysis of amniocytes revealed expansion of the trinucleotide (CTG) repeat within the myotonin PK gene, associated with myotonic dystrophy. The fetus was found to have approximately 1730 copies, while the normal population has between 5 and 27 copies, and minimally affected individuals have at least 50 copies.

Adult↗
PubMed1992

Deletion of the proximal short arm of chromosome 8.

We report on a 5-month-old boy with a de novo interstitial deletion of the proximal short arm of chromosome 8 (p21p11.2). He manifested bilateral cleft lip and palate, and apparent hypogonadism. Four previous case reports with similar deletions (p11.1p21) were associated with hypogonadotropic hypogonadism [Beighle et al., Hum Genet 38:113-121, 1977] and hereditary spherocytosis (HS) [Chilcote et al., Blood 6:156-159, 1987; Kitatani et al., Hum Genet 78:94-95, 1988; Lux et al., Nature 345:736-739, 1990]. Our patient has no demonstrable red blood cell abnormality, suggesting that the gene for HS is located in the region 8p11.1 to 8p11.2.

Chromosome Deletion↗
PubMed1991

Oto-palatal-digital syndrome type II with X-linked cerebellar hypoplasia/hydrocephalus.

We describe an infant with clinically apparent oto-palatal-digital syndrome Type II (OPD II), who, in addition, also has hydrocephalus and cerebellar hypoplasia. This second X-linked disorder has not been reported previously to occur in association with OPD II. This patient had 2 maternal uncles who died neonatally with congenital hydrocephalus and digital abnormalities consistent with OPD II. We suggest that these 2 entities may be located near one another on the X chromosome, and that both loci are affected in this family.

Abnormalities, Multiple↗